ClinVar Miner

List of variants studied for Brain abnormalities, neurodegeneration, and dysosteosclerosis

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001288705.3(CSF1R):c.*36A>C rs2066934 0.82488
NM_001288705.3(CSF1R):c.*35C>T rs2066933 0.82461
NM_001288705.3(CSF1R):c.2133-35G>C rs216138 0.82067
NM_001288705.3(CSF1R):c.726C>T (p.Thr242=) rs2228422 0.47995
NM_001288705.3(CSF1R):c.84T>C (p.Pro28=) rs216123 0.46517
NM_001288705.3(CSF1R):c.2442+23C>T rs216136 0.45604
NM_001288705.3(CSF1R):c.110C>T (p.Thr37Met) rs139635308 0.00018
NM_001288705.3(CSF1R):c.1402G>T (p.Val468Leu) rs756493296 0.00002
NM_001288705.3(CSF1R):c.349G>A (p.Val117Met) rs566891025 0.00001
NM_001288705.3(CSF1R):c.395C>T (p.Pro132Leu) rs1351319114 0.00001
NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter) rs917027829
NM_001288705.3(CSF1R):c.1620T>A (p.Tyr540Ter) rs1757862455
NM_001288705.3(CSF1R):c.1754-1G>C rs1561913526
NM_001288705.3(CSF1R):c.1859-119G>A rs1561912628
NM_001288705.3(CSF1R):c.1879_1881del (p.Lys627del) rs1554101963
NM_001288705.3(CSF1R):c.1929C>A (p.His643Gln) rs184499252
NM_001288705.3(CSF1R):c.1969+115_1969+116del rs1581289103
NM_001288705.3(CSF1R):c.2308G>A (p.Ala770Thr)
NM_001288705.3(CSF1R):c.2350G>A (p.Val784Met) rs690016564
NM_001288705.3(CSF1R):c.2517G>T (p.Trp839Cys) rs1757199923
NM_001288705.3(CSF1R):c.2545T>A (p.Phe849Ile)
NM_001288705.3(CSF1R):c.2549C>A (p.Ser850Ter)
NM_001288705.3(CSF1R):c.2809A>G (p.Ser937Gly)
NM_001288705.3(CSF1R):c.604C>T (p.Pro202Ser)
NM_001288705.3(CSF1R):c.69dup (p.Glu24fs)
NM_001288705.3(CSF1R):c.740C>T (p.Pro247Leu)
NM_001288705.3(CSF1R):c.828C>G (p.Tyr276Ter) rs1758310413

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